ClinVar for Gene (Select 389493) - ClinVar

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Links from Gene

Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2684487	GRCh37/hg19 7p11.2-11.1(chr7:55498635-58025873)x3	CCT6A, CHCHD2 +12 more	Copy number gain	not provided	GUncertain significance
Select item 2657517	NM_001145712.2(NUPR2):c.15A>T (p.Ala5=)	NUPR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2348676	NM_001145712.2(NUPR2):c.17A>T (p.Glu6Val)	NUPR2 (E6V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348675	NM_001145712.2(NUPR2):c.16G>C (p.Glu6Gln)	NUPR2 (E6Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1340760	GRCh37/hg19 7p11.2(chr7:55776531-56393852)x3	CCT6A, CHCHD2 +8 more	Copy number gain	not provided	GLikely benign
Select item 1340644	GRCh37/hg19 7p11.2(chr7:55757106-56489653)x3	CCT6A, CHCHD2 +8 more	Copy number gain	not provided	GLikely benign
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 685442	GRCh37/hg19 7p12.1-11.1(chr7:52809787-58025873)x1	CCT6A, CHCHD2 +17 more	Copy number loss	not provided	GUncertain significance
Select item 545348	Single allele	CCT6A, CHCHD2 +95 more	Duplication	Autism	GLikely pathogenic
Select item 503572	GRCh37/hg19 7p11.2(chr7:55848150-56344705)x3	PHKG1, PSPH +8 more	Copy number gain	See cases	GUncertain significance
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 442331	GRCh37/hg19 7p11.2(chr7:55550741-56945077)x1	CCT6A, CHCHD2 +9 more	Copy number loss	See cases	GLikely benign
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 59682	GRCh38/hg38 7p12.1-q11.22(chr7:53274059-68576213)x3	ASL, CCT6A +229 more	Copy number gain	See cases	GPathogenic
Select item 59680	GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3	LOC129389795, LOC129389796 +636 more	Copy number gain	See cases	GPathogenic
Select item 59596	GRCh38/hg38 7p12.1-11.2(chr7:52192528-57823293)x3	CCT6A, CHCHD2 +107 more	Copy number gain	See cases	GUncertain significance
Select item 58866	GRCh38/hg38 7p12.1-11.2(chr7:52114454-57434735)x1	CCT6A, CHCHD2 +107 more	Copy number loss	See cases	GUncertain significance

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Links from Gene

Items: 22